Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9BVK2 (ALG8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

EC=2.4.1.265
Alternative name(s):
Asparagine-linked glycosylation protein 8 homolog
Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase
Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase
Gene names
Name:ALG8
ORF Names:HUSSY-02
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length526 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc1Man9GlcNAc(2)-PP-Dol By similarity.

Catalytic activity

Dolichyl beta-D-glucosyl phosphate + D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.

Involvement in disease

Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the ALG6/ALG8 glucosyltransferase family.

Sequence caution

The sequence CAA12176.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BVK2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9BVK2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     451-526: KEKPLFNWME...DSAIGKTKKQ → RSFTLVAQAGVQWHDLS
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 526526Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
PRO_0000174162

Regions

Transmembrane4 – 2421Helical; Potential
Transmembrane103 – 12220Helical; Potential
Transmembrane143 – 16321Helical; Potential
Transmembrane188 – 20821Helical; Potential
Transmembrane238 – 25821Helical; Potential
Transmembrane334 – 35421Helical; Potential
Transmembrane368 – 38821Helical; Potential
Transmembrane389 – 40921Helical; Potential
Transmembrane427 – 44923Helical; Potential
Transmembrane461 – 48121Helical; Potential
Transmembrane488 – 50821Helical; Potential

Natural variations

Alternative sequence451 – 52676KEKPL…KTKKQ → RSFTLVAQAGVQWHDLS in isoform 2.
VSP_046291
Natural variant471T → P in CDG1H. Ref.6
VAR_023480
Natural variant2221N → S. Ref.1 Ref.6
Corresponds to variant rs665278 [ dbSNP | Ensembl ].
VAR_023481
Natural variant2751G → D in CDG1H. Ref.6
VAR_023482
Natural variant4391I → T.
Corresponds to variant rs17825668 [ dbSNP | Ensembl ].
VAR_031596

Experimental info

Sequence conflict4781F → Y in CAA12176. Ref.1
Sequence conflict5031I → V in AAH01133. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 3, 2007. Version 2.
Checksum: 71589A4EC09C3BE7

FASTA52660,088
        10         20         30         40         50         60 
MAALTIATGT GNWFSALALG VTLLKCLLIP TYHSTDFEVH RNWLAITHSL PISQWYYEAT 

        70         80         90        100        110        120 
SEWTLDYPPF FAWFEYILSH VAKYFDQEML NVHNLNYSSS RTLLFQRFSV IFMDVLFVYA 

       130        140        150        160        170        180 
VRECCKCIDG KKVGKELTEK PKFILSVLLL WNFGLLIVDH IHFQYNGFLF GLMLLSIARL 

       190        200        210        220        230        240 
FQKRHMEGAF LFAVLLHFKH IYLYVAPAYG VYLLRSYCFT ANKPDGSIRW KSFSFVRVIS 

       250        260        270        280        290        300 
LGLVVFLVSA LSLGPFLALN QLPQVFSRLF PFKRGLCHAY WAPNFWALYN ALDKVLSVIG 

       310        320        330        340        350        360 
LKLKFLDPNN IPKASMTSGL VQQFQHTVLP SVTPLATLIC TLIAILPSIF CLWFKPQGPR 

       370        380        390        400        410        420 
GFLRCLTLCA LSSFMFGWHV HEKAILLAIL PMSLLSVGKA GDASIFLILT TTGHYSLFPL 

       430        440        450        460        470        480 
LFTAPELPIK ILLMLLFTIY SISSLKTLFR KEKPLFNWME TFYLLGLGPL EVCCEFVFPF 

       490        500        510        520 
TSWKVKYPFI PLLLTSVYCA VGITYAWFKL YVSVLIDSAI GKTKKQ 

« Hide

Isoform 2 [UniParc].

Checksum: C790C4A6964929BF
Show »

FASTA46753,181

References

« Hide 'large scale' references
[1]"Characterization of 16 novel human genes showing high similarity to yeast sequences."
Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N., Zimbello R., Lanfranchi G., Valle G.
Yeast 18:69-80(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-222.
Tissue: Melanocyte.
[2]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Skin.
[5]"A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation."
Chantret I., Dancourt J., Dupre T., Delenda C., Bucher S., Vuillaumier-Barrot S., Ogier de Baulny H., Peletan C., Danos O., Seta N., Durand G., Oriol R., Codogno P., Moore S.E.H.
J. Biol. Chem. 278:9962-9971(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CONGENITAL DISORDER OF GLYCOSYLATION TYPE I.
[6]"Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)."
Schollen E., Frank C.G., Keldermans L., Reyntjens R., Grubenmann C.E., Clayton P.T., Winchester B.G., Smeitink J., Wevers R.A., Aebi M., Hennet T., Matthijs G.
J. Med. Genet. 41:550-556(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDG1H PRO-47 AND ASP-275, VARIANT SER-222.

Web resources

GeneReviews
GGDB

GlycoGene database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ224875 mRNA. Translation: CAA12176.1. Different initiation.
AP002520 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW75050.1.
BC001133 mRNA. Translation: AAH01133.1.
RefSeqNP_001007028.1. NM_001007027.2.
NP_076984.2. NM_024079.4.
UniGeneHs.503368.

3D structure databases

ProteinModelPortalQ9BVK2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122511. 5 interactions.
IntActQ9BVK2. 2 interactions.
STRING9606.ENSP00000299626.

Protein family/group databases

CAZyGT57. Glycosyltransferase Family 57.

PTM databases

PhosphoSiteQ9BVK2.

Polymorphism databases

DMDM143811361.

Proteomic databases

PaxDbQ9BVK2.
PRIDEQ9BVK2.

Protocols and materials databases

DNASU79053.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299626; ENSP00000299626; ENSG00000159063. [Q9BVK2-1]
ENST00000376156; ENSP00000365326; ENSG00000159063. [Q9BVK2-2]
GeneID79053.
KEGGhsa:79053.
UCSCuc001oyz.1. human.
uc001oza.1. human. [Q9BVK2-1]

Organism-specific databases

CTD79053.
GeneCardsGC11M077811.
HGNCHGNC:23161. ALG8.
HPAHPA051898.
MIM608103. gene.
608104. phenotype.
neXtProtNX_Q9BVK2.
Orphanet79325. ALG8-CDG.
PharmGKBPA134942124.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG277067.
HOGENOMHOG000168174.
HOVERGENHBG024332.
InParanoidQ9BVK2.
KOK03849.
OMAALTLCGY.
PhylomeDBQ9BVK2.
TreeFamTF315002.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ9BVK2.
BgeeQ9BVK2.
CleanExHS_ALG8.
GenevestigatorQ9BVK2.

Family and domain databases

InterProIPR004856. Glyco_trans_ALG6/ALG8.
[Graphical view]
PANTHERPTHR12413. PTHR12413. 1 hit.
PfamPF03155. Alg6_Alg8. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiALG8.
GenomeRNAi79053.
NextBio67803.
PROQ9BVK2.
SOURCESearch...

Entry information

Entry nameALG8_HUMAN
AccessionPrimary (citable) accession number: Q9BVK2
Secondary accession number(s): A6NDW6, O60860
Entry history
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: April 3, 2007
Last modified: April 16, 2014
This is version 121 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM